ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.60A>G (p.Leu20=)

gnomAD frequency: 0.00453  dbSNP: rs114918706
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000367434 SCV000448741 uncertain significance Aspartylglucosaminuria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000367434 SCV000755892 benign Aspartylglucosaminuria 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356480 SCV002658087 likely benign Inborn genetic diseases 2022-03-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV000367434 SCV001457095 benign Aspartylglucosaminuria 2020-09-16 no assertion criteria provided clinical testing

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